Literature DB >> 8307577

Linkage of typical pseudoachondroplasia to chromosome 19.

J T Hecht1, C A Francomano, M D Briggs, M Deere, B Conner, W A Horton, M Warman, D H Cohn, S H Blanton.   

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at theta = 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/D19S215)-++ +D19S222-D19S49.

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Year:  1993        PMID： 8307577     DOI： 10.1016/s0888-7543(05)80370-2

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  13 in total

1.  Granulin epithelin precursor: a bone morphogenic protein 2-inducible growth factor that activates Erk1/2 signaling and JunB transcription factor in chondrogenesis.

Authors:  Jian Q Feng; Feng-Jin Guo; Bai-Chun Jiang; Yan Zhang; Sally Frenkel; Da-Wei Wang; Wei Tang; Yixia Xie; Chuan-Ju Liu
Journal:  FASEB J       Date:  2010-02-02       Impact factor: 5.191

2.  Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz.

Authors:  Oliver J Muensterer; Walter E Berdon; Ralph S Lachman; Stephen L Done
Journal:  Pediatr Radiol       Date:  2012-03-18

3.  Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Authors:  M D Briggs; G R Mortier; W G Cole; L M King; S S Golik; J Bonaventure; L Nuytinck; A De Paepe; J G Leroy; L Biesecker; M Lipson; W R Wilcox; R S Lachman; D L Rimoin; R G Knowlton; D H Cohn
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

Review 4.  Progranulin: a promising therapeutic target for rheumatoid arthritis.

Authors:  Chuan-ju Liu
Journal:  FEBS Lett       Date:  2011-05-04       Impact factor: 4.124

Review 5.  Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.

Authors:  J W Stevens
Journal:  Iowa Orthop J       Date:  1999

6.  ADAMTS-7: a metalloproteinase that directly binds to and degrades cartilage oligomeric matrix protein.

Authors:  Chuan-Ju Liu; Wei Kong; Kiril Ilalov; Shuang Yu; Ke Xu; Lisa Prazak; Marc Fajardo; Bantoo Sehgal; Paul E Di Cesare
Journal:  FASEB J       Date:  2006-04-03       Impact factor: 5.191

7.  Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene.

Authors:  M D Briggs; H Choi; M L Warman; J A Loughlin; P Wordsworth; B C Sykes; C M Irven; M Smith; R Wynne-Davies; M H Lipson
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

8.  ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor.

Authors:  Xiao-Hui Bai; Da-Wei Wang; Li Kong; Yan Zhang; Yi Luan; Tatsuya Kobayashi; Henry M Kronenberg; Xiu-Ping Yu; Chuan-Ju Liu
Journal:  Mol Cell Biol       Date:  2009-06-01       Impact factor: 4.272

9.  Genetic heterogeneity in multiple epiphyseal dysplasia.

Authors:  M Deere; S H Blanton; C I Scott; L O Langer; R M Pauli; J T Hecht
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  Genome-wide analyses of gene expression during mouse endochondral ossification.

Authors:  Claudine G James; Lee-Anne Stanton; Hanga Agoston; Veronica Ulici; T Michael Underhill; Frank Beier
Journal:  PLoS One       Date:  2010-01-13       Impact factor: 3.240
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